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Neurosurgery Clinics of North America Jan 2022Achondroplasia is the most common of skeletal dysplasias and is caused by a defect in endochondral bone formation. In addition to skeletal deformities, patients with... (Review)
Review
Achondroplasia is the most common of skeletal dysplasias and is caused by a defect in endochondral bone formation. In addition to skeletal deformities, patients with achondroplasia possess significant abnormalities of the axial skeleton, including small skull base with a narrowed foramen magnum and small vertebral bodies with shortened pedicles. Consequently, patients with achondroplasia are at risk of several severe neurologic conditions, such as cervicomedullary compression, spinal stenosis, and hydrocephalus, which frequently require the attention of a neurosurgeon. This article provides an updated review on the neurosurgical evaluation and care of children with Achondroplasia.
Topics: Achondroplasia; Child; Constriction, Pathologic; Foramen Magnum; Humans; Hydrocephalus; Infant; Spinal Stenosis
PubMed: 34801138
DOI: 10.1016/j.nec.2021.09.003 -
Clinics in Sports Medicine Jan 2022Rotational deformity is a less common cause of patellar instability than trochlear dysplasia and patella alta. In some cases, rotational deformity is the primary bony... (Review)
Review
Rotational deformity is a less common cause of patellar instability than trochlear dysplasia and patella alta. In some cases, rotational deformity is the primary bony factor producing the instability and should be corrected surgically. More research is needed on what are normal values for femoral version and tibial torsion, as well as when the axial plane alignment needs to be corrected. Many tools can be used to evaluate the axial plane and surgeons should be familiar with each of them. Understanding the advantages and disadvantages of each site for osteotomy will help the surgeon choose the most appropriate osteotomy.
Topics: Femur; Humans; Joint Instability; Patella; Patellar Dislocation; Patellofemoral Joint; Tibia
PubMed: 34782074
DOI: 10.1016/j.csm.2021.07.011 -
Best Practice & Research. Clinical... Dec 2019Axial spondyloarthritis (SpA) is a chronic disease characterised by new bone formation (NBF) in the axial skeleton as well as at peripheral entheseal sites. NBF is... (Review)
Review
Axial spondyloarthritis (SpA) is a chronic disease characterised by new bone formation (NBF) in the axial skeleton as well as at peripheral entheseal sites. NBF is thought to arise in areas of previous inflammation or osteitis visualised on MRI, with mechanical stress playing a role in disease pathogenesis. The interface between bone and immune cells is complex with the RANKL-OPG system being key to NBF. The IL-17/23 axis and other cytokines such as TNFα and MIF are thought to play a central role. The transition from inflammation to NBF is mediated via the Wnt, BMP and Hedgehog signalling pathways. An altered microbiome has been reported in SpA, which is a potential trigger of NBF in SpA. There is now data to show that treatment with TNF inhibitors prevents NBF and hence modifies disease progression. More research into identifying newer targets for disease modification is needed to alter the course of the disease.
Topics: Bone and Bones; Hedgehog Proteins; Humans; Inflammation; Osteogenesis; Spondylarthritis
PubMed: 32305314
DOI: 10.1016/j.berh.2020.101491 -
Annals of Anatomy = Anatomischer... May 2021The bones are of mesenchymal or ectomesenchymal origin, form the skeleton of most vertebrates, and are essential for locomotion and organ protection. As a living tissue... (Review)
Review
The bones are of mesenchymal or ectomesenchymal origin, form the skeleton of most vertebrates, and are essential for locomotion and organ protection. As a living tissue they are highly vascularized and remodelled throughout life to maintain intact. Bones consist of osteocytes entrapped in a mineralized extracellular matrix, and via their elaborated network of cytoplasmic processes they do not only communicate with each other but also with the cells on the bone surface (bone lining cells). Bone tissue develops through a series of fine-tuned processes, and there are two modes of bone formation, referred to either as intramembranous or endochondral ossification. In intramembranous ossification, bones develop directly from condensations of mesenchymal cells, and the flat bones of the skull, the clavicles and the perichondral bone cuff develop via this process. The bones of the axial (ribs and vertebrae) and the appendicular skeleton (e.g. upper and lower limbs) form through endochondral ossification where mesenchyme turns into a cartilaginous intermediate with the shape of the future skeletal element that is gradually replaced by bone. Endochondral ossification occurs in all vertebrate taxa and its onset involves differentiation of the chondrocytes, mineralization of the extracellular cartilage matrix and vascularization of the intermediate, followed by disintegration and resorption of the cartilage, bone formation, and finally - after complete ossification of the cartilage model - the establishment of an avascular articular cartilage. The epiphyseal growth plate regulates the longitudinal growth of the bones, achieved by a balanced proliferation and elimination of chondrocytes, and the question whether the late hypertrophic chondrocytes die or transform into osteogenic cells is still being hotly debated. The complex processes leading to endochondral ossification have been studied for over a century, and this review aims to give an overview of the histological and molecular events, arising from the long bones' (e.g. femur, tibia) development. The fate of the hypertrophic chondrocytes will be discussed in the light of new findings obtained from cell tracking studies.
Topics: Animals; Bone Development; Cartilage; Chondrocytes; Growth Plate; Osteogenesis; Skull
PubMed: 33600952
DOI: 10.1016/j.aanat.2021.151704 -
Clinical Rheumatology Apr 2022Axial spondyloarthritis is a chronic inflammatory disorder that primarily involves the axial skeleton (sacroiliac joints and spine), causing stiffness, severe pain and... (Review)
Review
Axial spondyloarthritis is a chronic inflammatory disorder that primarily involves the axial skeleton (sacroiliac joints and spine), causing stiffness, severe pain and fatigue. In some patients, definitive structural damage of sacroiliac joints is visible on imaging and is known as radiographic axial spondyloarthritis. Some patients do not have a clear radiographic damage of the sacroiliac joints, and this subtype is known as non-radiographic axial spondyloarthritis. Early diagnosis is important for reducing the risk of irreversible structural damage and disability. Management of axial spondyloarthritis is challenging in Saudi Arabia because of inadequate disease knowledge and the unavailability of local guidelines. Therefore, this expert consensus is intended to provide recommendations, including the referral pathway, the definition of remission and the treat-to-target approach, to all healthcare professionals for the management of patients with axial spondyloarthritis. A Delphi technique of consensus was developed by involving an expert panel of 10 rheumatologists, 1 dermatologist and 1 general physician. The experts offered consensus-based recommendations based on a review of available scientific evidence and clinical experience for the referral, screening and management of patients with axial spondyloarthritis.
Topics: Axial Spondyloarthritis; Early Diagnosis; Humans; Magnetic Resonance Imaging; Referral and Consultation; Sacroiliac Joint; Saudi Arabia; Spine; Spondylarthritis
PubMed: 34997382
DOI: 10.1007/s10067-021-06019-5 -
La Radiologia Medica Apr 2021Systemic mastocytosis (SM) is a rare form of mastocytosis that can affect various organ systems. Bone involvement is the most common and prominent imaging feature in... (Review)
Review
Systemic mastocytosis (SM) is a rare form of mastocytosis that can affect various organ systems. Bone involvement is the most common and prominent imaging feature in patients with SM regardless of the subtype. Furthermore, bone involvement is a prognostic factor as it may entail an aggressive course of the disease. Diagnosis is established by bone marrow biopsy complemented by imaging modalities such as radiography, CT, and magnetic resonance (MR) imaging. The radiographic and CT appearances are that of sclerotic, lytic, or mixed patterns with focal or diffuse distribution, involving primarily the axial skeleton and the ends of the long bones. Bone marrow infiltration is best recognized on MR imaging. Osteoporosis is common in SM; thus, a bone mineral density measurement at lumbar spine and proximal femur by dual-energy X-ray absorptiometry should be obtained. Imaging plays a huge part in the diagnostic process; when skeletal imaging findings are carefully interpreted and correlated with clinical features, they can lead to the suspicion of SM. The primary aims of this review article were to focus on the role of imaging in detection and characterization of skeletal patterns of SM and to discuss relevant clinical features that could facilitate prompt and correct diagnosis.
Topics: Absorptiometry, Photon; Bone Density; Bone Marrow; Female; Humans; Magnetic Resonance Imaging; Male; Mastocytosis, Systemic; Middle Aged; Pelvic Bones; Radiography; Spine; Tomography, X-Ray Computed
PubMed: 33242205
DOI: 10.1007/s11547-020-01306-8 -
Acta Ortopedica Mexicana 2021A metastasis is the tumor cell capacity to migrate from the primary tumor and implant itself in tissues of an organ at a distance by hematogenous, lymphatic or... (Observational Study)
Observational Study
INTRODUCTION
A metastasis is the tumor cell capacity to migrate from the primary tumor and implant itself in tissues of an organ at a distance by hematogenous, lymphatic or contiguity. The main causes of bone metastases are: breast, prostate and lung cancer. It usually occurs in patients over 50 years of age. There is a predilection for metastasizing to the axial skeleton.
OBJECTIVE
To determine the frequency of tumors that produce bone metastases in our institution.
MATERIAL AND METHODS
Observational, cross-sectional, descriptive study, for retrospective analysis of the cases of patients diagnosed with bone metastases.
RESULTS
193 cases; 121 women and 72 men with an age range of 42 to 84 years. Cancers associated with bone metastases were breast, lung, prostate, cervical and renal cancers; to a lesser extent other such as colon, thyroid, liver and skin. The most affected bones were axial skeleton: lumbar and dorsal spine, and in appendicular skeleton the femur in the diaphysiary region and in the humerus the proximal third. At present it has not been possible to improve the effectiveness of timely detection strategies, so bone pain should begin with a protocol of tumor suspicion.
CONCLUSIONS
More than 80% of the patients came for fracture. All patients had a history of pain greater than 12 months with no prior study protocol.
Topics: Adult; Aged; Aged, 80 and over; Bone Neoplasms; Cross-Sectional Studies; Female; Femur; Humans; Humerus; Male; Middle Aged; Retrospective Studies
PubMed: 34731924
DOI: No ID Found -
Clinical and Experimental Rheumatology 2021Ankylosing spondylitis (AS) is a chronic rheumatic disease which affects the axial skeleton and sacroiliac joints. By impacting spinal mobility and physical functions,... (Review)
Review
OBJECTIVES
Ankylosing spondylitis (AS) is a chronic rheumatic disease which affects the axial skeleton and sacroiliac joints. By impacting spinal mobility and physical functions, AS could also potentially impair gait. However, while published data are rather sparse, it appears that discrepancies exist regarding AS consequences on gait characteristics, tasks and analysis techniques used to assess gait ability of patients with AS. The review questions are twofold: (1) How is gait assessed in patients with AS? and (2) What are the consequences of AS on gait?
METHODS
Databases were systematically searched to identify studies satisfying the search criteria, using the synonyms of ankylosing spondylitis and gait. Two reviewers extracted from the articles study characteristics, methods and main results in relation to gait.
RESULTS
192 titles were extracted from databases and 21 studies were included in the review. 16 studies (76%) used clinical gait measurements and 5 (23%) used laboratory gait measurements. Only 7 involved a healthy control group. Studies used various protocols, instructions and parameters when assessing gait. Gait of patients with AS was associated with decreased stride length, pelvic movements and lower limbs angles in the sagittal plane, and increased hip abduction and external rotation compared to healthy controls.
CONCLUSIONS
Only few studies have assessed gait characteristics in patients with AS and published data evidence that kinematic parameters of gait is altered, but no consensus exists regarding gait analysis methods for patients with AS. Guidelines are provided to improve the design and methodology for future studies on gait and AS.
Topics: Biomechanical Phenomena; Gait; Humans; Sacroiliac Joint; Spine; Spondylitis, Ankylosing
PubMed: 33025884
DOI: 10.55563/clinexprheumatol/le3bmj -
Arthroscopy : the Journal of... Aug 2020Trochleoplasty in patellofemoral instability has always been controversial. Most authors recognize the fundamental role of trochlear dysplasia in the genesis of patellar...
Trochleoplasty in patellofemoral instability has always been controversial. Most authors recognize the fundamental role of trochlear dysplasia in the genesis of patellar dislocation, and some strongly defend correcting the abnormality, yet others find it too dangerous or unnecessary. Misunderstanding or undervaluation of trochlear dysplasia leads to inappropriate or failed patellofemoral (PF) surgery, the iatrogenic complications of which are well known. Many surgeons miss a key aspect of trochlear dysplasia: the overhang or the prominence of the trochlea relative to the anterior femoral cortex, characterized by a supra-trochlear spur. Trochleoplasty should not be performed as a secondary or revision procedure, but as a primary procedure with clear indications, and the key to improved outcomes is to ensure the right indication for each patient, which can only be determined by understanding the extent of dysplasia in both the axial and sagittal planes.
Topics: Femur; Humans; Knee Joint; Ligaments, Articular; Patellar Dislocation; Surgeons
PubMed: 32747065
DOI: 10.1016/j.arthro.2020.05.050 -
Seminars in Musculoskeletal Radiology Feb 2023Magnetic resonance imaging (MRI) of the axial skeleton, spine, and sacroiliac (SI) joints is critical for the early detection and follow-up of inflammatory rheumatologic...
Magnetic resonance imaging (MRI) of the axial skeleton, spine, and sacroiliac (SI) joints is critical for the early detection and follow-up of inflammatory rheumatologic disorders such as axial spondyloarthritis, rheumatoid arthritis, and SAPHO/CRMO (synovitis, acne, pustulosis, hyperostosis, and osteitis/chronic recurrent multifocal osteomyelitis). To offer a valuable report to the referring physician, disease-specific knowledge is essential. Certain MRI parameters can help the radiologist provide an early diagnosis and lead to effective treatment. Awareness of these hallmarks may help avoid misdiagnosis and unnecessary biopsies. A bone marrow edema-like signal plays an important role in reports but is not disease specific. Age, sex, and history should be considered in interpreting MRI to prevent overdiagnosis of rheumatologic disease. Differential diagnoses-degenerative disk disease, infection, and crystal arthropathy-are addressed here. Whole-body MRI may be helpful in diagnosing SAPHO/CRMO.
Topics: Humans; Bone Marrow; Osteomyelitis; Arthritis, Rheumatoid; Spine
PubMed: 36868247
DOI: 10.1055/s-0043-1761496